eJHaem, Volume 7, Issue 2, April 2026.ABSTRACT Noonan syndrome (NS) is a RASopathy that can have hematological presentations, most commonly NS‐related myeloproliferative disorder (NS/MPD) and juvenile myelomonocytic leukemia. Other neonatal hematologic presentations remain poorly defined.
Ariel Gershon +4 more
wiley +1 more source
Intertester and intratester reliability of movement control tests on the hip for patients with hip osteoarthritis [PDF]
, 2017 Hip joint complaints are a problem associated with increasing age and impair the mobility of a large section of the elderly population. Reliable and valid tests are necessary for a thorough investigation of a joint.
Keller, Niculina +3 more
core +1 more source
Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4‐Related Dysplasia
Clinical Genetics, Volume 109, Issue 4, Page 796-802, April 2026.Exploring the genotype and phenotype diversity in a Chinese cohort with TRPV4‐related dysplasia. ABSTRACT Dominant mutations in the calcium permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically result in skeletal dysplasia or peripheral neuromuscular disease.
Lina Dong +8 more
wiley +1 more source
Blount Disease Evaluation of the Operative Treatment Within 2006-2014 in Dr. Soetomo General Hospital Surabaya [PDF]
, 2017 Background: Blount disease is a growth disturbance of the medial side of the proximal physeal of the tibia, epiphyseal and metaphyseal. Clinically this disease marked by varus angulation and internal rotation of the tibia on the metaphyseal area below ...
Ranuh, I. G. (I) +1 more
core
Clinical and Translational Medicine, Volume 16, Issue 3, March 2026.The MMP13 R458fs protein is retained in the ER and exhibits enhanced binding to HSPA5, which promotes the dissociation of IRE1α, ATF6, and PERK. This triggers ER stress, leading to increased chondrocyte apoptosis and abnormal expansion of the growth plate hypertrophic zone, ultimately impairing long bone growth and causing short stature.
Huifei Lu +9 more
wiley +1 more source
Rehabilitative Ultrasound Imaging to Study the Gastrocnemius Muscles Morphology in Patients with Genu Varum and Valgum Deformities [PDF]
, 2017 Introduction: Genu varum and genu valgum deformities are highly prevalent in Iran. These deformities bring about changes in the structure and function of muscles around the knees.
Khalkhali Zavieh, Minoo +5 more
core +2 more sources
Aggregate, Volume 7, Issue 2, February 2026.This work proposed the multiscale crosslinking strategy to fabricate durable and crack‐resistant dual‐network C─lignin‐based triboelectric materials. The prepared PSGCL‐0.2 exhibited multifunctional properties, including mechanical strength, excellent cyclic stability, antibacterial properties, antioxidant activity, UV resistance, water retention ...
Boyu Du +8 more
wiley +1 more source
The Effect of Knee Deformity on Pain Intensity and Functional Fitness in Middle Age Male with Nonspecific Chronic Low Back Pain [PDF]
New Approaches in Sport Sciences, 2019 Purpose: Low back pain is one of the most common health problems of the world. Very different causes can cause back pain. Approximately 85% of people who are examined for low back pain the cause is not specific.
Shahnaz Shahrjerdi +2 more
doaj +1 more source
Rare DMD Gene Duplication in a Lebanese Child With Duchene Muscular Dystrophy
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT A five‐year‐old boy with clinical features of Duchenne muscular dystrophy was found to have a rare de novo DMD exon 2–9 duplication. Reporting such atypical duplications improves genotype–phenotype interpretation and highlights the need for multidisciplinary care, particularly in resource‐limited settings.
Nada Assaf +4 more
wiley +1 more source
The Comparsion of the Electromyography of Leg Muscles and Peak Vertical Ground Reaction Forces during Single Leg Drop Landing between Men with Genu Varum Deformity and Normal Knee [PDF]
Sport Sciences and Health Research, 2013 The aim of this study was to compare the electromyography of leg muscles and the peak vertical ground reaction forces during single leg drop landing of men with genu varum deformity and normal knee.
Mohammadreza Mahaki +3 more
doaj +1 more source